Fluorimetric assay with a novel substrate for quantification of galactocerebrosidase activity in dried blood spot specimens

Background: Decreased galactocerebrosidase (GALC) enzyme activity is causative for Krabbe disease, a lysosomal storage disorder with devastating neurodegenerative consequences. Quantitative fluorimetric assays for GALC activity in isolated blood and skin cells have been described; however, no such a...

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Autors principals:	Anirudh J. Ullal, Hong Pham, Rajendra Singh, Peter Ross, Carrie A. Graham, Scott M. Norton, Miriam H. Nuffer, Debbie S. Burns, Allen E. Eckhardt, Maria Escolar, Deeksha Bali, Vamsee K. Pamula
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2020-01-01
Col·lecció:	Practical Laboratory Medicine
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2352551719300186
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